Canonical Allele Identifier: CA4318766

Gene: PCLO

Linked Data

• dbSNP Id: rs754982859
• ExAC: 7:82453523 C / G
• gnomAD v2: 7-82453523-C-G
• gnomAD v4: 7-82824207-C-G
• MyVariant Identifiers: chr7:g.82453523C>G (hg19) ; chr7:g.82824207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.82824207C>G , CM000669.2:g.82824207C>G	GRCh38
NC_000007.13:g.82453523C>G , CM000669.1:g.82453523C>G	GRCh37
NC_000007.12:g.82291459C>G	NCBI36
NG_047145.1:g.343675G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333891.14:c.14596+29G>C MANE Select	ENSP00000334319.8:n.14596+29G>C
ENST00000333891.13:c.14596+29G>C	ENSP00000334319.8:n.14596+29G>C
ENST00000423517.6:c.14596+29G>C	ENSP00000388393.2:n.14596+29G>C
ENST00000426442.6:n.1091+29G>C
ENST00000618073.1:c.859+29G>C	ENSP00000482390.1:n.859+29G>C
NM_014510.2:c.14596+29G>C	NP_055325.2:n.14596+29G>C
NM_033026.5:c.14596+29G>C	NP_149015.2:n.14596+29G>C
XM_017012006.2:c.7501+29G>C	XP_016867495.1:n.7501+29G>C
XM_017012007.1:c.7474+29G>C	XP_016867496.1:n.7474+29G>C
XR_001744643.2:n.16165+29G>C
NM_033026.6:c.14596+29G>C MANE Select	NP_149015.2:n.14596+29G>C
NM_014510.3:c.14596+29G>C	NP_055325.2:n.14596+29G>C